Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828065186

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1068356

ClinVar RCV Id: RCV001379881 RCV004526847

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Gln148Arg	CA10324936 NM_001362782.2:c.443A>G